Variant report

Variant	nsv1002258
Chromosome Location	chr3:78481969-78532178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1209 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1209 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192068082	chr3:78486836-78486837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74282323	chr3:78486855-78486856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184514159	chr3:78486885-78486886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146767959	chr3:78486920-78486921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549726815	chr3:78486966-78486967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188466760	chr3:78486984-78486985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140001950	chr3:78486997-78486998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558887570	chr3:78487226-78487227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148958996	chr3:78487237-78487238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541178808	chr3:78487244-78487245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543689023	chr3:78487301-78487302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561241053	chr3:78487308-78487309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62255736	chr3:78487327-78487328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543487210	chr3:78487346-78487347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563374733	chr3:78487348-78487349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186304965	chr3:78487395-78487396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189618521	chr3:78487396-78487397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559957537	chr3:78487426-78487427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528696605	chr3:78487488-78487489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181589545	chr3:78487545-78487546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563687154	chr3:78487633-78487634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568538807	chr3:78487641-78487642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536382231	chr3:78487675-78487676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34540925	chr3:78487712-78487713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549894167	chr3:78487719-78487720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569716816	chr3:78487794-78487795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538590062	chr3:78487799-78487800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78250041	chr3:78487930-78487931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572269494	chr3:78487932-78487933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186195481	chr3:78487962-78487963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75166598	chr3:78487963-78487964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115130429	chr3:78487966-78487967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543548728	chr3:78487981-78487982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563396083	chr3:78487984-78487985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576838995	chr3:78487989-78487990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545758308	chr3:78488000-78488001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200844755	chr3:78488009-78488010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4283538	chr3:78488023-78488024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143727650	chr3:78488027-78488028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151083616	chr3:78488037-78488038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191356869	chr3:78488045-78488046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182820778	chr3:78488066-78488067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567058985	chr3:78488087-78488088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35179038	chr3:78488088-78488089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35374375	chr3:78488143-78488144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531125404	chr3:78488197-78488198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549904321	chr3:78488205-78488206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569725127	chr3:78488215-78488216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3923272	chr3:78488245-78488246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs114630810	chr3:78488248-78488249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78486800-78487000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:78487200-78490600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:78490600-78491200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:78491200-78496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:78495800-78496600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:78497600-78497800	Enhancers	Psoas Muscle	Psoas
7	chr3:78504000-78506200	Enhancers	Fetal Brain Male	brain
8	chr3:78504400-78505600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:78504400-78505600	Enhancers	Fetal Brain Female	brain
10	chr3:78504400-78505600	Enhancers	Fetal Lung	lung
11	chr3:78504400-78506000	Enhancers	Colon Smooth Muscle	Colon
12	chr3:78504600-78505000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:78504600-78506200	Enhancers	Adipose Nuclei	Adipose
14	chr3:78504800-78505600	Enhancers	Brain Germinal Matrix	brain
15	chr3:78508600-78509400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:78508600-78509800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:78508800-78509200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:78508800-78509200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:78508800-78509200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:78508800-78509400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:78508800-78509800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:78509000-78509400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:78509200-78512200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:78516400-78517400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:78516600-78517600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:78516800-78517600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr3:78517000-78517400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:78517000-78517600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr3:78517400-78522000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:78517400-78527400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:78517600-78518600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:78517600-78523200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:78521400-78522000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:78522000-78522200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:78522200-78523200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:78522800-78523600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr3:78523200-78523400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr3:78523200-78523600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:78523600-78524400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr3:78523600-78526800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:78523600-78526800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:78524200-78525200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:78524400-78525000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:78524400-78526000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:78524800-78528000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:78525000-78525400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr3:78525000-78525400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:78525000-78525600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:78525000-78525800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:78525000-78528000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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